Canonical Allele Identifier: CA161196142
Gene: CCDC146 HGNC NCBI

Linked Data

dbSNP Id: rs534232342
gnomAD v3: 7-77133471-C-A
gnomAD v4: 7-77133471-C-A
MyVariant Identifiers: chr7:g.76762788C>A (hg19) chr7:g.77133471C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.77133471C>A , CM000669.2:g.77133471C>A GRCh38
NC_000007.13:g.76762788C>A , CM000669.1:g.76762788C>A GRCh37
NC_000007.12:g.76600724C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000285871.5:c.-12+10739C>A MANE Select ENSP00000285871.4:n.-12+10739C>A
ENST00000285871.4:c.-12+10739C>A ENSP00000285871.4:n.-12+10739C>A
ENST00000415750.5:c.-12+11003C>A ENSP00000388649.1:n.-12+11003C>A
NM_020879.2:c.-12+10739C>A NP_065930.2:n.-12+10739C>A
XR_927691.1:n.48-4745G>T
NM_020879.3:c.-12+10739C>A MANE Select NP_065930.2:n.-12+10739C>A
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